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Article

GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2000

Yeh G L, Mathur S, Wivel A, Li M, Gannon F H, Ulied A, Audi L, Olmstead E A, Kaplan F S, Shore E M

Abstract excerpt

We evaluated a 7-year-old girl with severe platelike osteoma cutis (POC), a variant of progressive osseous heteroplasia (POH). The child had congenital heterotopic ossification of dermis and subcutaneous fat that progressed to involve deep skeletal muscles of the face, scalp, and eyes. Although involvement of skeletal muscle is a prominent feature of POH, heterotopic ossification has not been observed in the...

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Source

Identifiers

PMID: 11092389
DOI: 10.1359/jbmr.2000.15.11.2063

Genes

RUNX2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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